Canonical Allele Identifier: CA413929728

Gene: BTK

Linked Data

• ClinVar Variation Id: 969941
• ClinVar RCV Id: RCV001245402
• dbSNP Id: rs1926588125
• MyVariant Identifiers: chrX:g.100614291A>G (hg19) ; chrX:g.101359303A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359303A>G , CM000685.2:g.101359303A>G	GRCh38
NC_000023.10:g.100614291A>G , CM000685.1:g.100614291A>G	GRCh37
NC_000023.9:g.100500947A>G	NCBI36
NG_009616.1:g.31922T>C , LRG_128:g.31922T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.664T>C
ENST00000478995.2:n.1044T>C
ENST00000488970.2:n.1042T>C
ENST00000695614.1:c.884T>C	ENSP00000512053.1:p.Leu295Pro
ENST00000695615.1:c.884T>C	ENSP00000512054.1:p.Leu295Pro
ENST00000695616.1:c.*729T>C	ENSP00000512055.1:n.*729T>C
ENST00000695617.1:c.881T>C	ENSP00000512056.1:p.Leu294Pro
ENST00000695618.1:c.*633T>C	ENSP00000512058.1:n.*633T>C
ENST00000695619.1:c.*684+785T>C	ENSP00000512059.1:n.*684+785T>C
ENST00000695620.1:c.*729T>C	ENSP00000512060.1:n.*729T>C
ENST00000695621.1:c.884T>C	ENSP00000512061.1:p.Leu295Pro
ENST00000695622.1:c.821T>C	ENSP00000512062.1:p.Leu274Pro
ENST00000695623.1:c.878T>C	ENSP00000512063.1:p.Leu293Pro
ENST00000695624.1:n.189T>C
ENST00000695625.1:c.884T>C	ENSP00000512064.1:p.Leu295Pro
ENST00000703407.1:c.884T>C	ENSP00000512057.1:p.Leu295Pro
ENST00000308731.8:c.884T>C MANE Select	ENSP00000308176.8:p.Leu295Pro
ENST00000308731.7:c.884T>C	ENSP00000308176.7:p.Leu295Pro
ENST00000372880.5:c.884T>C	ENSP00000361971.1:p.Leu295Pro
ENST00000618050.4:c.884T>C	ENSP00000479125.1:p.Leu295Pro
ENST00000621635.4:c.986T>C	ENSP00000483570.1:p.Leu329Pro
NM_000061.2:c.884T>C , LRG_128t1:c.884T>C	NP_000052.1:p.Leu295Pro
NM_001287344.1:c.986T>C	NP_001274273.1:p.Leu329Pro
NM_001287345.1:c.884T>C	NP_001274274.1:p.Leu295Pro
NM_000061.3:c.884T>C MANE Select	NP_000052.1:p.Leu295Pro
NM_001287344.2:c.986T>C	NP_001274273.1:p.Leu329Pro
NM_001287345.2:c.884T>C	NP_001274274.1:p.Leu295Pro